Variant report

Variant	rs62511580
Chromosome Location	chr8:61131564-61131565
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61130148..61133120-chr8:61137634..61140614,3	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10081509	0.82[EUR][1000 genomes]
rs11780368	1.00[AFR][1000 genomes]
rs11784742	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12549573	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4738799	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62511578	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6987086	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72665103	0.93[ASN][1000 genomes]
rs7462276	0.98[ASN][1000 genomes]
rs7462315	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv831332	chr8:60985600-61157730	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1022752	chr8:61095248-61322302	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv831333	chr8:61102862-61275122	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	esv3371465	chr8:61115030-61356658	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv972587	chr8:61123327-61133192	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61105800-61149400	Weak transcription	Gastric	stomach
2	chr8:61106400-61138800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:61107200-61132000	Weak transcription	Left Ventricle	heart
4	chr8:61107200-61138200	Weak transcription	Placenta	Placenta
5	chr8:61117800-61167400	Weak transcription	Fetal Stomach	stomach
6	chr8:61119400-61139400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:61119600-61138400	Weak transcription	Lung	lung
8	chr8:61120600-61158200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr8:61121400-61132200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:61121400-61132600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:61124200-61138000	Weak transcription	Fetal Intestine Small	intestine
12	chr8:61126400-61135000	Weak transcription	Pancreas	Pancrea
13	chr8:61127600-61146000	Weak transcription	Brain Anterior Caudate	brain
14	chr8:61128600-61136200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr8:61129000-61149400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr8:61129600-61139400	Strong transcription	K562	blood
17	chr8:61130600-61135400	Strong transcription	Fetal Intestine Large	intestine
18	chr8:61131200-61135800	Weak transcription	A549	lung
19	chr8:61131200-61138800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr8:61131400-61136000	Weak transcription	Brain Inferior Temporal Lobe	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links